Haas, Dorothea Dr. med.Universität HeidelbergHeidelberg
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- Langhans, Claus-Dieter (4)
- Mütze, Ulrike (3)
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Recent publications in heiBIB 
(In total there are 49 publications catalogued)
- Das, Anibh Martin: Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1 : consensus group recommendations from the German-speaking countries / Anibh M. Das, Diana Ballhausen, Dorothea Haas, Johannes Häberle, Tobias Hagedorn, Cecilia Janson-Mut… , January 2025. - 18 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 48(2025), 1 vom: Jan., Artikel-ID e12824, Seite 1-18
DOI: 10.1002/jimd.12824
- Mütze, Ulrike: Vitamin B12 deficiency newborn screening / Ulrike Mütze, MD, Florian Gleich, Dipl VW, Dorothea Haas, MD, Michael S. Urschitz, MD, MSc, Wulf Rös… , August 2024. - 10 S.
In: Pediatrics, ISSN 1098-4275. 154(2024), 2 vom: Aug., Artikel-ID e2023064809, Seite 1-10
DOI: 10.1542/peds.2023-064809
- Trefz, Friedrich K.: Does hyperphenylalaninemia induce brain glucose hypometabolism? : Cerebral spinal fluid findings in treated adult phenylketonuric patients / Friedrich Trefz, Georg Frauendienst-Egger, Gerald Dienel, Claire Cannet, Brigitte Schmidt-Mader, Dor… , 23 March 2024. - 11 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 142(2024), 1 vom: Mai, Artikel-ID 108464, Seite 1-11
DOI: 10.1016/j.ymgme.2024.108464
- Grünert, Sarah: Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b / Sarah C. Grünert, Matthias Gautschi, Joshua Baker, Monica Boyer, Alberto Burlina, Thomas Casswall, W… , June 2024. - 6 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 142(2024), 2 vom: Juni, Artikel-ID 108486, Seite 1-6
DOI: 10.1016/j.ymgme.2024.108486
- Erdal, Izzet: Dihydropyrimidinase deficiency with atrioventricular septal defect : a case report / İzzet Erdal, Yılmaz Yıldız, Oya Kuseyri Hübschmann, Dorothea Haas, Ceren Günbey, İlker Ertuğrul und … , 4. Juli 2024. - 4 S.
In: The journal of pediatric endocrinology and metabolism, ISSN 2191-0251. 37(2024), 8, Seite 741-744
DOI: 10.1515/jpem-2023-0518
- Schnabel-Besson, Elena: Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria / Elena Schnabel, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmi… , 2023. - 15 S. : Illustrationen
In: Nutrients, ISSN 2072-6643. 15(2023), 15, Artikel-ID 3355, Seite 1-15
DOI: 10.3390/nu15153355
- Grünert, Sarah: Efficacy and safety of empagliflozin in glycogen storage disease type Ib : data from an international questionnaire / Sarah C. Grünert, Terry G.J. Derks, Katarina Adrian, Khalid Al-Thihli, Diana Ballhausen, Joanna Bidi… , 3 May 2022. - 8 S.
In: Genetics in medicine, ISSN 1530-0366. 24(2022), 8 vom: Aug., Seite 1781-1788
DOI: 10.1016/j.gim.2022.04.001
- Drovandi, Stefania: Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy / Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia B… , 26 April 2022. - 12 S.
In: Kidney international, ISSN 1523-1755. 102(2022), 3 vom: Sept., Seite 592-603
DOI: 10.1016/j.kint.2022.02.040
- Drovandi, Stefania: Oral coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency / Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia B… , 25 May 2022. - 9 S.
In: Kidney international, ISSN 1523-1755. 102(2022), 3 vom: Sept., Seite 604-612
DOI: 10.1016/j.kint.2022.04.029
- Iuso, Arcangela: Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene / Arcangela Iuso, Fangfang Zhang, Ejona Rusha, Birgit Campbell, Tatjana Dorn, Enrica Zanuttigh, Doroth… , May2022. - 5 S.
In: Stem cell research, ISSN 1876-7753. 61(2022), Artikel-ID 102773, Seite 1-5
DOI: 10.1016/j.scr.2022.102773
